H36D (p.His36Asp) variant of SORL1 (Sortilin-related receptor)
H36D (p.His36Asp) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H36D (p.His36Asp) variant details
- p.His36Asp
- gnomAD 11-121452437-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.22
- MetaLR 0.62
- MetaSVM -0.34
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available